ACTIVE_NOT_RECRUITING

Multi-omics Study in Citrin Deficiency

Study Overview

This clinical trial focuses on testing the efficacy of different digital interventions to promote re-engagement in cancer-related long-term follow-up care for adolescent and young adult (AYA) survivors of childhood cancer.

Description

Citrin deficiency (CD) is an underdiagnosed and understudied condition characterized by several distinct phenotypes: 1) neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD), 2) the adaptation or silent period, 3) "failure to thrive and dyslipidemia" form of CD (FTTDCD), and 4) citrullinemia type II (CTLN2), with the latter representing the final and most severe form of the condition. There is currently no cure for CD and patients manage their symptoms with lifelong dietary intervention and regular checkups with their physicians. A major hurdle in developing effective treatments for CD is the lack of effective biomarkers that track well with disease severity or measure the effectiveness of therapeutics. The present study aims to identify robust circulating biomarkers of CD through analysis of blood samples from CD patients.

Official Title

Multi-omics Study in Citrin Deficiency for Characterization of Disease-specific Metabolites and Biomarker Identification

Quick Facts

Study Start:2023-04-01
Study Completion:2026-12
Study Type:Not specified
Phase:Not Applicable
Enrollment:Not specified
Status:ACTIVE_NOT_RECRUITING

Study ID

NCT06895746

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Ages Eligible for Study:0 Years to 100 Years
Sexes Eligible for Study:ALL
Accepts Healthy Volunteers:Yes
Standard Ages:CHILD, ADULT, OLDER_ADULT
Inclusion CriteriaExclusion Criteria
  1. Age 18 years or older
  2. Willing and able to provide informed consent
  3. Able to understand and follow study procedures
  4. Stable medical condition
  1. Pregnancy or breastfeeding
  2. Severe psychiatric disorders
  3. Active substance abuse
  4. Unstable medical conditions
  5. Inability to comply with study requirements

Contacts and Locations

Study Locations (Sites)

Mount Sinai Hospital
New York, New York, 10029
United States

Collaborators and Investigators

Sponsor: Johannes Haeberle

Study Record Dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Registration Dates

Study Start Date2023-04-01
Study Completion Date2026-12

Study Record Updates

Study Start Date2023-04-01
Study Completion Date2026-12

Terms related to this study

Keywords Provided by Researchers

  • citrin deficiency
  • multi-omics
  • biomarker identification

Additional Relevant MeSH Terms

  • Citrin Deficiency